Papers
RefSeq ID
Protein change
DNA change
1–12 of 112 variants
NM_001454.4
p.S290_T291insFs
c.868_871dup4
NM_001454.4
p.Q276*
c.826C>T
NM_001454.4
p.E323delFs
c.967delC
NM_001454.4
p.E301*
c.901G>T
NM_001454.4
p.A313delFs
c.939delG
NM_001454.4
p.F315delFs
c.945delG
NM_001454.4
p.T96R
c.287C>G
NM_001454.4
p.T291fs
c.871_872fs
NM_001454.4
p.D310_W311delFs
c.929_932del4
NM_001454.4
p.I314fs
c.940_941fs
NM_001454.4
p.F315fs
c.943_944fs
NM_001454.4
p.E323fs
c.967_968fs